Canonical Allele Identifier: CA2790274426
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226937_5226945del , CM000673.2:g.5226937_5226945del GRCh38
NC_000011.9:g.5248167_5248175del , CM000673.1:g.5248167_5248175del GRCh37
NC_000011.8:g.5204743_5204751del NCBI36
NG_000007.3:g.70671_70679del
NG_059281.1:g.5127_5135del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.77_85del ENSP00000494175.1:p.Gly26_Leu29delinsVal
ENST00000335295.4:c.77_85del MANE Select ENSP00000333994.3:p.Gly26_Leu29delinsVal
ENST00000380315.2:c.77_85del ENSP00000369671.2:p.Gly26_Leu29delinsVal
ENST00000485743.1:n.128_136del
ENST00000633227.1:c.76+1_76+9del ENSP00000488004.1:n.76+1_76+9del
NM_000518.4:c.77_85del NP_000509.1:p.Gly26_Leu29delinsVal
NM_000518.5:c.77_85del MANE Select NP_000509.1:p.Gly26_Leu29delinsVal
Search 100 bp 5'
Search 100 bp 3'